Varaico: Literature-Extracted Genetic Variants

Gene:KTN1
Variant:p.L125H

KTN1

123 papers

RefSeq Summary

This gene encodes an integral membrane protein that is a member of the kinectin protein family. The encoded protein is primarily localized to the endoplasmic reticulum membrane. This protein binds kin...

Pfam Domains

Rib_recp_KP_regaa 29–172UCSCRibosome receptor lysine/proline rich region

Gene Aliases

HGNC Name

kinectin 1

HGNC Alias Symbols

KIAA0004; CG1; KNT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001079521.2
p.L125H
c.374T>A
Surrounding Variants
1 paper
NM_001079521.2
p.V124L
c.370G>C
2 papers
NM_001079521.2
p.A135T
c.403G>A
1 paper
NM_001079521.2
p.I138I
c.414T>A
1 paper
NM_001079521.2
p.Q151R
c.452A>G
2 papers
NM_001079521.2
p.P152A
c.454C>G
1 paper
NM_001079521.2
p.T153I
c.458C>T
1 paper
NM_001079521.2
p.A158T
c.472G>A
1 paper
NM_001079521.2
p.A91A
c.273A>T
1 paper
NM_001079521.2
p.A160T
c.478G>A
1 paper
NM_001079521.2
p.A89T
c.265G>A
1 paper
NM_001079521.2
p.S87L
c.260C>T
1 paper
NM_001079521.2
p.D83N
c.247G>A
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